We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Hemoglobin Kirklareli [Α<sub>2</sub> 59(E7) His>Leu; HBA2:c.176A>T] in a Brazilian child with severe dyspnea and low O<sub>2</sub> saturation.
- Authors
Pedroso, G. A.; Fernandes, P.; Jorge, S. E. D. C.; Nascimento, P. H.; Lima, P. C.; Grigoleto, M. R. P.; Albuquerque, D. M.; Santos, M. N. N.; Costa, F. F.; Toro, A. A. D. C.; Sonati, M. F.
- Abstract
Molecular analysis of the globin genes and mass spectrometry of the patient's Hb peptides revealed the 1 H59L mutation (HBA1:c.176A>T] (according to Human Genome Variation Society-HGVS nomenclature). Tests to detect unstable Hb intra-erythrocyte bodies were negative [[2]]. The Brazilian patient did not present with anemia, but his respiratory condition may have been aggravated by the presence of the variant and reduced O SB 2 sb saturation even when he is not having an asthma attack.
- Subjects
BRAZIL; HEMOGLOBINS; DYSPNEA; IRON deficiency anemia; SMOKING cessation; OXYGEN
- Publication
Annals of Hematology, 2019, Vol 98, Issue 12, p2853
- ISSN
0939-5555
- Publication type
case study
- DOI
10.1007/s00277-019-03839-z